Chapter 10 DELAYED PUBERTY
In girls, puberty begins with the development of breast buds, which is controlled by estrogens that are produced by the ovaries. This is followed by the appearance of pubic and axillary hair, which is controlled by androgens that are produced by the adrenal cortex and the ovaries. In addition, there is rapid skeletal growth. Menarche is a late occurrence in puberty.
Causes of Delayed Puberty
Constitutional Delayed Puberty
Central nervous system (CNS) tumors and infiltrative diseases
Key Historical Features
✓ Age at which breasts started developing and when pubic and axillary hair appeared
✓ Dietary and exercise history
✓ Mood changes associated with puberty
✓ Deafness (gonadal dysgenesis)
✓ History or symptoms of chronic diseases (see items listed earlier), as well as use of corticosteroids
✓ Medical history, especially of chronic diseases, eating disorders, congenital heart disease, chemotherapy, or radiation therapy
✓ Family history of delayed puberty, genetic disorders, or neurologic disorders
Key Physical Findings
✓ Height and weight plotted on a growth curve
✓ Evaluation for any dysmorphic features
✓ Manifestations of Turner syndrome (short stature, webbed neck, broad chest with widely spaced nipples, ptosis)
✓ Manifestations of Noonan syndrome (short stature, triangular face, low-set ears, pectus excavatum, short webbed neck)
✓ Ophthalmologic examination for visual field defects, which may indicate a pituitary tumor
✓ Cardiovascular examination for any congenital heart defects (Noonan syndrome, LEOPARD syndrome, Turner syndrome, or CHARGE syndrome)
✓ Determination of stage of breast development
✓ Gynecologic examination of genitalia for pubertal stage and appropriateness to gender
✓ Dermatologic examination for pubic and axillary hair, as well as acne
Suggested Work-Up
| Radiography of left wrist | To assess bone age |
| Luteinizing hormone (LH) and follicle-stimulating hormone (FSH) measurements | To distinguish a hypothalamic-pituitary cause or constitutional delay (low levels) from a gonadal cause (high levels) |
| Cortisol level measurement | To evaluate pituitary function |
| Insulin-like growth factor 1 measurement | To evaluate pituitary function |
| Estradiol | To evaluate for gonadal failure |
| Complete blood cell count | To evaluate for anemia of chronic disease |
| Liver function tests | To evaluate for chronic liver disease |
| Creatinine measurement | To evaluate for chronic renal disease |
| Electrolyte measurements | To evaluate for metabolic disorders and chronic renal disease |
| Thyroid-stimulating hormone (TSH) and free thyroxine (T4) measurement | To evaluate for thyroid disease |
| Fasting blood glucose measurement | To evaluate for diabetes |
| Urinalysis | To evaluate for renal disease |
Additional Work-Up
| Erythrocyte sedimentation rate measurement | To evaluate for inflammatory processes |
| Celiac disease panel: tissue transglutaminase antibody, gliadin antibody, and endomysial antibody | If celiac disease is suspected |
| Prolactin measurement | To evaluate for hyperprolactinemia |
| Karyotype analysis | If a chromosomal abnormality is suspected |
| Sigmoidoscopy | If inflammatory bowel disease is suspected |
| Magnetic resonance imaging (MRI) of brain and pituitary gland | If a disorder of the hypothalamic-pituitary axis is suspected |
| Pelvic ultrasonography | If an abnormality of the uterus or ovaries is suspected |
| Gonadotropin-releasing hormone (GnRH) stimulation test | To evaluate the hypothalamic-pituitary-gonadal axis |
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